Variant report

Variant	rs73012784
Chromosome Location	chr2:153269140-153269141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153265041..153269898-chr2:153270458..153273464,4	K562	blood:
2	chr2:153262402..153264231-chr2:153268942..153273243,3	K562	blood:
3	chr2:153265232..153268503-chr2:153268822..153271827,3	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10931079	0.92[ASN][1000 genomes]
rs11694392	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11696004	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12476186	0.92[ASN][1000 genomes]
rs12693362	0.84[ASN][1000 genomes]
rs13388095	0.84[ASN][1000 genomes]
rs16831021	0.92[ASN][1000 genomes]
rs16831065	0.83[ASN][1000 genomes]
rs16831082	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831093	0.93[ASN][1000 genomes]
rs16831100	0.93[ASN][1000 genomes]
rs16831118	0.84[ASN][1000 genomes]
rs2345874	0.92[ASN][1000 genomes]
rs34006820	0.84[ASN][1000 genomes]
rs34047327	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35662043	0.90[ASN][1000 genomes]
rs3811576	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66663920	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6746538	0.92[ASN][1000 genomes]
rs6757782	0.93[ASN][1000 genomes]
rs6761178	0.92[ASN][1000 genomes]
rs67689907	0.96[ASN][1000 genomes]
rs67761838	0.92[ASN][1000 genomes]
rs73012774	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587450	0.93[ASN][1000 genomes]
rs7601047	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153247400-153277600	Weak transcription	Fetal Intestine Small	intestine
2	chr2:153252000-153269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:153264200-153288200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:153264400-153269400	Weak transcription	HSMMtube	muscle
5	chr2:153264400-153269600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:153264400-153270200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:153264400-153271200	Weak transcription	Aorta	Aorta
8	chr2:153264400-153274800	Enhancers	Brain Anterior Caudate	brain
9	chr2:153264400-153278000	Weak transcription	Fetal Kidney	kidney
10	chr2:153264600-153269800	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:153264600-153271800	Weak transcription	Right Atrium	heart
12	chr2:153264600-153277200	Enhancers	A549	lung
13	chr2:153265000-153269600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:153265200-153274800	Weak transcription	Fetal Brain Male	brain
15	chr2:153265200-153278000	Weak transcription	Fetal Lung	lung
16	chr2:153265800-153272000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:153266000-153270400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:153266000-153272800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:153266000-153278800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:153266200-153272600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:153266200-153279000	Enhancers	Brain Angular Gyrus	brain
22	chr2:153266600-153270200	Enhancers	Placenta	Placenta
23	chr2:153266600-153270800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:153266800-153270200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:153267000-153270200	Enhancers	HUVEC	blood vessel
26	chr2:153267000-153272000	Enhancers	NHEK	skin
27	chr2:153267000-153277000	Weak transcription	NHLF	lung
28	chr2:153267000-153278800	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:153267000-153279200	Enhancers	Brain Substantia Nigra	brain
30	chr2:153267200-153269400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr2:153267200-153269600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:153267200-153271000	Enhancers	HepG2	liver
33	chr2:153267200-153271200	Weak transcription	NH-A	brain
34	chr2:153267200-153271600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:153267200-153271800	Weak transcription	Gastric	stomach
36	chr2:153267200-153271800	Weak transcription	Lung	lung
37	chr2:153267400-153269600	Enhancers	Brain Hippocampus Middle	brain
38	chr2:153267400-153271000	Weak transcription	Left Ventricle	heart
39	chr2:153267600-153271600	Weak transcription	NHDF-Ad	bronchial
40	chr2:153267600-153271800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:153267600-153271800	Weak transcription	Right Ventricle	heart
42	chr2:153268000-153270400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:153268000-153271000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:153268000-153271800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:153268000-153271800	Weak transcription	Osteobl	bone
46	chr2:153268200-153269400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:153268200-153272000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:153268200-153277400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr2:153268400-153269400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr2:153268400-153269400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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